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GeneBe

RPL36AL

ribosomal protein L36a like, the group of L ribosomal proteins

Basic information

Region (hg38): 14:49618529-49620626

Previous symbols: [ "RPL36A", "RPL36AP42" ]

Links

ENSG00000165502NCBI:6166OMIM:180469HGNC:10346Uniprot:Q969Q0AlphaFoldGenCCjaxSfariGnomADPubmedClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the RPL36AL gene.

  • not provided (1 variants)
  • Inborn genetic diseases (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the RPL36AL gene is commonly pathogenic or not.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

Variant type Pathogenic Likely pathogenic VUS Likely benign Benign Sum
synonymous
0
missense
1
clinvar
1
nonsense
0
start loss
0
frameshift
0
inframe indel
0
splice donor/acceptor (+/-2bp)
0
splice region
0
non coding
1
clinvar
1
Total 0 0 1 0 1

Variants in RPL36AL

This is a list of pathogenic ClinVar variants found in the RPL36AL region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position Type Phenotype Significance ClinVar
14-49619010-G-T not specified Uncertain significance (Dec 14, 2023)3156080
14-49619044-G-A not specified Uncertain significance (Jun 22, 2021)2234164
14-49620530-T-C Benign (Apr 25, 2021)1230840

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
RPL36ALprotein_codingprotein_codingENST00000298289 12167
pLI Probability
LOF Intolerant
pRec Probability
LOF Recessive
Individuals with
no LOFs
Individuals with
Homozygous LOFs
Individuals with
Heterozygous LOFs
Defined p
0.04840.6991255660241255900.0000956
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense1.143458.50.5810.00000318692
Missense in Polyphen612.2580.48949172
Synonymous0.2491920.40.9309.87e-7197
Loss of Function0.63423.230.6192.21e-744

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.0001230.000123
Ashkenazi Jewish0.000.00
East Asian0.000.00
Finnish0.000.00
European (Non-Finnish)0.0001770.000176
Middle Eastern0.000.00
South Asian0.000.00
Other0.0003280.000326

dbNSFP

Source: dbNSFP

Pathway
Ribosome - Homo sapiens (human);SRP-dependent cotranslational protein targeting to membrane;Eukaryotic Translation Initiation;Eukaryotic Translation Termination;Translation;Selenocysteine synthesis;Metabolism of proteins;Metabolism of amino acids and derivatives;Metabolism of RNA;Formation of a pool of free 40S subunits;Metabolism;Nonsense-Mediated Decay (NMD);Selenoamino acid metabolism;Nonsense Mediated Decay (NMD) independent of the Exon Junction Complex (EJC);Nonsense Mediated Decay (NMD) enhanced by the Exon Junction Complex (EJC);L13a-mediated translational silencing of Ceruloplasmin expression;Peptide chain elongation;Eukaryotic Translation Elongation;GTP hydrolysis and joining of the 60S ribosomal subunit;Cap-dependent Translation Initiation (Consensus)

Recessive Scores

pRec
0.122

Intolerance Scores

loftool
rvis_EVS
-0.01
rvis_percentile_EVS
52.85

Haploinsufficiency Scores

pHI
0.417
hipred
Y
hipred_score
0.730
ghis
0.619

Essentials

essential_gene_CRISPR
E
essential_gene_CRISPR2
essential_gene_gene_trap
N
gene_indispensability_pred
E
gene_indispensability_score
0.903

Gene Damage Prediction

AllRecessiveDominant
MendelianLowLowLow
Primary ImmunodeficiencyMediumLowMedium
CancerLowLowLow

Mouse Genome Informatics

Gene name
Rpl36al
Phenotype

Gene ontology

Biological process
translation
Cellular component
nucleus;endoplasmic reticulum;cytosol;plasma membrane;cytosolic large ribosomal subunit
Molecular function
structural constituent of ribosome;protein binding